Back
#1
51.0%
Top 2%
8.0%
Top 5%
3.5%
Top 0.8%
3.5%
Top 5%
2.4%
Top 3%
2.4%
Top 0.8%
1.9%
Top 85%
1.7%
Top 7%
1.7%
Top 4%
1.7%
Top 41%
1.7%
Top 1%
1.5%
Top 8%
1.4%
Top 6%
1.2%
Top 7%
0.9%
Top 7%
0.9%
Top 98%
0.9%
Top 7%
0.9%
Top 4%
0.9%
Top 11%
0.6%
Top 8%
0.6%
Top 13%
0.6%
Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines
2023-09-14
genetic and genomic medicine
Title + abstract only
View on medRxiv
Show abstract
BackgroundGenome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-first ascertainment of novel genetic conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians and families is unclear. MethodsWe identified reports published from 2017-2021 in ten genetics journals of novel Mendelian disorders ascertained genotype-first. We adjudicated the quality and detail of the phenotype data via 46...
Predicted journal destinations
1
Genetics in Medicine
57 training papers
2
The American Journal of Human Genetics
77 training papers
3
Nature Genetics
72 training papers
4
European Journal of Human Genetics
25 training papers
5
Genome Medicine
56 training papers
6
Human Genetics and Genomics Advances
39 training papers
7
Journal of Medical Genetics
22 training papers
8
Scientific Reports
701 training papers
9
Translational Psychiatry
94 training papers
10
PLOS Genetics
39 training papers
11
Nature Communications
483 training papers
12
npj Genomic Medicine
18 training papers
13
Brain
69 training papers
14
Frontiers in Genetics
32 training papers
15
Human Molecular Genetics
28 training papers
16
Movement Disorders
49 training papers
17
PLOS ONE
1737 training papers
18
Cell Genomics
34 training papers
19
Genes
21 training papers
20
Molecular Psychiatry
84 training papers
21
Circulation: Genomic and Precision Medicine
30 training papers
22
Nature
58 training papers